Condition: Walker-Warburg congenital muscular dystrophy
rs104894680 in
FKRP gene and
Walker-Warburg congenital muscular dystrophy
PMID 12707425 2003 The phenotype of limb-girdle muscular dystrophy type 2I.
PMID 14742276 2004 Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.
PMID 12666124 2003 Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
PMID 11592034 2001 Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
PMID 24447024 2014 Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I.
PMID 15060126 2004 FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
PMID 14647208 2003 Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
PMID 15121789 2004 Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
PMID 16634037 2006 High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
PMID 16476814 2006 Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.
PMID 18639457 2008 Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.
PMID 17336067 2007 A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.
PMID 23800702 2013 Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
PMID 17055682 2007 A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.
PMID 15574464 2005 Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
PMID 22908982 2012 Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
PMID 14652796 2004 New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
PMID 27363342 2017 Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.
PMID 28629604 2017 Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy.
PMID 15833426 2005 Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
PMID 26320847 2016 First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy.
PMID 23591631 2013 Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
PMID 11741828 2001 Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
PMID 21220724 2011 Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I.
PMID 23576288 2013 Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I.
PMID 15580560 2005 The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
PMID 16786213 2006 Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance.
PMID 22981120 2012 A population-based study of autosomal-recessive disease-causing mutations in a founder population.
PMID 18060779 2008 Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy.
PMID 18671187 2008 Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations.
PMID 16368217 2006 Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
PMID 19955119 2010 Zebrafish models for human FKRP muscular dystrophies.
PMID 23420653 2014 Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations.
PMID 23894383 2013 Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
PMID 28931339 2018 Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients.
PMID 27439679 2016 FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.
PMID 27848944 2017 Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
PMID 17446099 2007 Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.
PMID 18691338 2009 A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
PMID 17113772 2006 Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.
rs119463990 in
FKTN gene and
Walker-Warburg congenital muscular dystrophy
PMID 25814170 2015 Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.
PMID 19179078 2009 Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
PMID 9690476 1998 An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.
PMID 20961758 2011 Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
PMID 11165248 2001 Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.
PMID 22275357 2012 Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.
PMID 19396839 2009 Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.
PMID 17597323 2008 Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy.
PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
PMID 18177472 2008 Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.
PMID 27065010 2016 Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
PMID 19266496 2009 Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.
PMID 18752264 2008 Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
rs119462987 in
POMT1 gene and
Walker-Warburg congenital muscular dystrophy
PMID 16717220 2006 Expanding the clinical spectrum of POMT1 phenotype.
PMID 20816175 2010 POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
PMID 17878207 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
PMID 17869517 2008 Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
PMID 22549409 2012 Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
PMID 15637732 2005 Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
PMID 16575835 2006 The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
PMID 12369018 2002 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
PMID 24491487 2014 Compound heterozygous mutations in POMT1 were identified including a previously reported nonsense mutation (c.2167dupG; p.Asp723Glyfs*8) associated with Walker-Warburg syndrome and a novel missense mutation in a highly conserved region of the protein O-mannosyltransferase 1 protein (c.1958C>T; p.Pro653Leu).
PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.
PMID 18752264 2008 Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
PMID 28116189 2016 A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.
PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
PMID 24304607 2013 Detection limit of intragenic deletions with targeted array comparative genomic hybridization.
PMID 24491487 2014 A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
rs150736997 in
RXYLT1;RXYLT1-AS1 gene and
Walker-Warburg congenital muscular dystrophy
PMID 23217329 2012 Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.